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You are now leaving the National Database for Autism Research (NDAR) web site to go to:

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In addition to cohorts of Parents (N=418), Siblings (N=50), and Probands (N=209), the publication publication describes a subset of male (N=47) and female (N=26) autistic subjects, with significant impairment and intellectual disability, and with cognitive impairment, respectively. These subsets have been defined based on hi/low IQ value in Supplementary Table 1 from the publication.
Publication Abstract:
It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is unknown. Under the hypothesis that de novo mutations underlie a substantial fraction of the risk for developing ASD in families with no previous history of ASD or related phenotypes--so-called sporadic or simplex families--we sequenced all coding regions of the genome (the exome) for parent-child trios exhibiting sporadic ASD, including 189 new trios and 20 that were previously reported. Additionally, we also sequenced the exomes of 50 unaffected siblings corresponding to these new (n = 31) and previously reported trios (n = 19), for a total of 677 individual exomes from 209 families. Here we show that de novo point mutations are overwhelmingly paternal in origin (4:1 bias) and positively correlated with paternal age, consistent with the modest increased risk for children of older fathers to develop ASD. Moreover, 39% (49 of 126) of the most severe or disruptive de novo mutations map to a highly interconnected l-catenin/chromatin remodelling protein network ranked significantly for autism candidate genes. In proband exomes, recurrent protein-altering mutations were observed in two genes: CHD8 and NTNG1. Mutation screening of six candidate genes in 1,703 ASD probands identified additional de novo, protein-altering mutations in GRIN2B, LAMC3 and SCN1A. Combined with copy number variant (CNV) data, these results indicate extreme locus heterogeneity but also provide a target for future discovery, diagnostics and therapeutics.

Create one or more cohorts for the study. Once created, upload GUIDs identified for inclusion using a comma separated list.
Note that a research subject may only be listed once in a cohort (e.g. included or excluded). When you upload your subjects,
promoted GUIDs will be displayed to avoid any duplication of subjects. Prior to upload subjects, it is recommended that you
first verify that you are using the most appropriate GUID for a subject using the Resolve Subject Identifiers utility.

Based upon the subjects and collections defined in Cohorts, NDAR will show the available outcome measures.
You can select a measure as either primary or secondary outcome measures. A minimum of one primary measure is needed to
share the study. Only the measures chosen will be available for download when the study is shared.

Observational Study

Controlled Study

Arms/Comparison

Behavioral

712

20

Behavioral

713

712

Placebo

714

712

Cohorts

723

20

Case

724

723

Control

725

723

Mixed

722

723

Dietary Supplement

706

20

Dietary Supplement

707

706

Placebo Comparator

708

706

Drug

700

20

Active Comparator

705

700

High Dose

702

700

Low Dose

701

700

Normal Dose

703

700

Placebo Comparator

704

700

Genomics

715

20

Control

717

715

Study Cohort

716

715

Procedure

709

20

Procedure

710

709

Sham

711

709

Description

Observation

612

19

Direct

617

612

Disguised

613

612

Human

615

612

Indirect

618

612

Mechanical

616

612

Non-Disguised

614

612

Non-Structured

620

612

Structured

619

612

Observational Model

606

19

Case Only

611

606

Case/Control

607

606

Defined Population

609

606

Family Based

608

606

Natural History

610

606

Primary Purpose

621

19

Diagnostic

624

621

Prevention

625

621

Screening

622

621

Supportive Care

623

621

Treatment

626

621

Settings

597

19

Contrived

599

597

Natural

598

597

Time Perspective

600

19

Cross-Sectional

601

600

Longitudinal

605

600

Prospective

602

600

Retrospective

603

600

Retrospective/Prospective

604

600

Intervention

Behavioral

643

21

Picture Exchange communication system (PECS)

646

643

Questionnaires

647

643

Social Recreational

645

643

Speech Therapy

644

643

Training Sessions

896

643

Dietary Supplement

633

21

Choline supplement

635

633

Melatonin

634

633

Drug

627

21

Acetyl-Choline Esterase Inhibitors

632

627

Atomoxetine

631

627

CM-AT

628

627

Donepezil hydrochloride

630

627

Galantamine

629

627

Klonopin

718

627

Genomics

648

21

Cell Counting

892

648

Gene regulation/microarray

650

648

Genotyping/microarray

649

648

RNA-Seq

748

648

Targeted Sequencing

752

648

Whole Exome Sequencing

741

648

Whole Genome Sequencing

764

648

Procedure

636

21

Acupressure treatments and NAET treatments

640

636

Acupuncture

637

636

EEG

639

636

Hippotherapy

642

636

Hyperbaric Oxygen Therapy (HBOT)

641

636

MRI

813

636

Physical Examination

902

636

fMRI

638

636

EEG

888

21

Medical Claims

745

21

Arms/Comparison

Behavioral

591

17

Behavioral

592

591

Placebo

593

591

Dietary Supplement

585

17

Dietary Supplement

586

585

Placebo Comparator

587

585

Drug

579

17

Active Comparator

584

579

High Dose

581

579

Low Dose

580

579

Normal Dose

582

579

Placebo Comparator

583

579

Genomics

594

17

Control

596

594

Study Cohort

595

594

Procedure

588

17

Procedure

589

588

Sham

590

588

Description

Allocation

556

16

Non-Randomized

557

556

Randomized

558

556

Endpoint Classification

559

16

Efficacy Study

562

559

Pharmacokinetics/Dynamics Study

563

559

Safety Study

561

559

Safety/Efficacy Study

560

559

Intervention Model

564

16

Crossover Assignment

566

564

Factorial Assignment

567

564

Parallel Assignment

565

564

Single Group Assignment

568

564

Masking

569

16

Double Blind

571

569

Open Label

572

569

Single Blind

570

569

Primary Purpose

573

16

Diagnostic

575

573

Health Services Research

578

573

Prevention

576

573

Supportive Care

574

573

Treatment

577

573

Intervention

Behavioral

668

18

Picture Exchange communication system (PECS)

671

668

Questionnaires

672

668

Social Recreational

670

668

Speech Therapy

669

668

Training Sessions

899

668

Dietary Supplement

658

18

Choline supplement

660

658

Melatonin

659

658

Drug

652

18

Acetyl-Choline Esterase Inhibitors

657

652

Antipsychotics

895

652

Atomoxetine

656

652

CM-AT

653

652

Donepezil hydrochloride

655

652

Galantamine

654

652

Genomics

673

18

Cell Counting

893

673

Methylation Analysis/Microarray

674

673

SNP Genotyping and CNV Analysis/Microarray

675

673

Whole Exome Sequencing

747

673

Whole Genome Sequencing

763

673

Procedure

661

18

Acupressure treatments and NAET treatments

665

661

Acupuncture

662

661

EEG

664

661

Hippotherapy

667

661

Hyperbaric Oxygen Therapy (HBOT)

666

661

Physical Examination

903

661

fMRI

663

661

Selection the Study Description, Study Arms/Comparison Groups, and Intervention types for either a Controlled or Observational Study.
If your study arms/comparison groups or intervention type is not listed, select Add New.